Publications
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):5022.
. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):4625.
. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 ;105(5):1048-1056.
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